Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

Table 1

Aneurysm syndromes.

Genetic aneurysm syndromes
Marfan syndrome (MFS)	FBN1	Dilatation and aneurysm of the aortic root, dilatation of the pulmonary artery, and dilatation or dissection of the descending thoracic or abdominal aorta
Ehlers-Danlos syndrome (EDS)	COL5A1, COL5A2, and COL3A1	Arterial mid-sized rupture, specially involving thoracic or abdominal vessels. Frequently descending and abdominal aorta [18]
Loeys-Dietz syndrome (LDS)	TGFBR1 and TGFBR2	Premature and aggressive aneurysms and dissections. Aneurysms distal to the aortic root
Familial aortic aneurysm and/or dissection syndromes (FAAD)	TGFBR2, MYH11, and ACTA2	Ascending aorta aneurysm and dissection
Bicuspid aortic valve (BAV)	Unknown	Aortic dilation typically involves the aortic root and ascending aorta whereas it is not present in the descending and abdominal aorta
Autosomal dominant polycystic kidney disease (ADPKD)	PKD1 and PKD2	Dilatation of the aortic root and dissection of the thoracic aorta
Turners	45X	Thoracic aortic aneurysms and dissections
Neurofibromatosis	NF1	Aneurysmal arterial disease affecting the abdominal aorta